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Parkinson's disease 19A
Summary
- Synonym
-
- juvenile onset Parkinson disease 19A
- juvenile onset Parkinson's disease 19A
- Definition
- An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.
- Super Class
- autosomal recessive disease early-onset Parkinson's disease
External Links
- Disease Ontology
- DOID:0060891
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11343 | MGLL | monoglyceride lipase | |
| 22876 | INPP5F | inositol polyphosphate-5-phosphatase F | |
| 22933 | SIRT2 | sirtuin 2 | |
| 23098 | SARM1 | sterile alpha and TIR motif containing 1 | |
| 23205 | ACSBG1 | acyl-CoA synthetase bubblegum family member 1 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 26232 | FBXO2 | F-box protein 2 | |
| 27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07585 | Decorin | |
| P07602 | Prosaposin | |
| P07741 | Adenine phosphoribosyltransferase | |
| P07911 | Uromodulin | |
| P08174 | Complement decay-accelerating factor | |
| P08319 | All-trans-retinol dehydrogenase [NAD(+)] ADH4 | |
| P08559 | Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P08758 | Annexin A5 | |
| P09104 | Gamma-enolase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000741 | Apathy |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001265 | Hyporeflexia |
| HP:0001332 | Dystonia |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0001621 | Weak voice |
